Residual risks by ethnicity

Transcription

1 Residual risks by ethnicity This table displays residual risks after a negative result for each of the genes and corresponding disorders. If a patient is reported to be a carrier of a disease, their residual risk is 1 and this table does not apply for that disease. Disease (Inheritance) Gene Ethnicity Carrier Frequency Detection Rate Residual Risk Analytical Detection Rate Abetalipoproteinemia (AR) MTTP African 1 in % 1 in 45,000 97% NM_ Ashkenazi Jewish 1 in % 1 in 5,800 East Asian 1 in % 1 in 7,500 Caucasian 1 in % 1 in 3,200 Latino 1 in % 1 in 71,000 South Asian 1 in % 1 in 103,000 Worldwide 1 in % 1 in 5,900 Achromatopsia (AR) CNGB3 African 1 in 50 98% 1 in 2,300 99% NM_ Ashkenazi Jewish 1 in 97 99% 1 in 9,600 East Asian 1 in % 1 in 20,700 Finnish 1 in % 1 in 16,200 Caucasian 1 in 87 99% 1 in 8,600 Latino 1 in 90 99% 1 in 8,900 South Asian 1 in 18 99% 1 in 1,700 Worldwide 1 in 61 99% 1 in 4,300 Acrodermatitis Enteropathica (AR) SLC39A4 African 1 in % 1 in 21,000 98% NM_ East Asian 1 in % 1 in 62,400 Finnish 1 in % 1 in 10,800 Caucasian 1 in % 1 in 12,100 Latino 1 in % 1 in 13,500 South Asian 1 in % 1 in 54,900 Worldwide 1 in % 1 in 11,000 Acute Infantile Liver Failure (AR) TRMU African 1 in % 1 in 5,500 99% NM_ Ashkenazi Jewish 1 in % 1 in 45,900 East Asian 1 in % 1 in 55,000 Caucasian 1 in % 1 in 9,400 Latino 1 in % 1 in 116,000 South Asian 1 in % 1 in 1,500 Worldwide 1 in % 1 in 6,600 Sephardic Jewish - Yemenite 1 in 34 81% 1 in 180 Acyl-CoA Oxidase I Deficiency (AR) ACOX1 African 1 in % 1 in 42,800 98% NM_ Caucasian 1 in % 1 in 35,800 Latino 1 in % 1 in 134,000 South Asian 1 in % 1 in 154,000 Worldwide 1 in % 1 in 52,000 Adenosine Deaminase Deficiency (AR) ADA African 1 in 91 92% 1 in 1,200 99% NM_ East Asian 1 in % 1 in 127,000 Finnish 1 in % 1 in 430,000 Caucasian 1 in % 1 in 5,100 Latino 1 in % 1 in 5,700 South Asian 1 in % 1 in 2,100 Worldwide 1 in % 1 in 3,300 Adrenoleukodystrophy, X-Linked (XL) ABCD1 Worldwide 1 in 10,000 47% 1 in 18,900 89% NM_ Exception: Exons 8 and 9

2 Aicardi-Goutières Syndrome SAMHD1 African 1 in % 1 in 75,300 99% (SAMHD1-Related) (AR) Ashkenazi Jewish 1 in % 1 in 12,900 NM_ East Asian 1 in % 1 in 2,700 Caucasian 1 in % 1 in 10,100 Latino 1 in % 1 in 241,000 South Asian 1 in % 1 in 385,000 Worldwide 1 in % 1 in 13,200 Alpha-Mannosidosis (AR) MAN2B1 African 1 in % 1 in 29,000 99% NM_ East Asian 1 in % 1 in 8,000 Finnish 1 in % 1 in 21,800 Caucasian 1 in % 1 in 6,200 Latino 1 in % 1 in 5,200 South Asian 1 in % 1 in 2,500 Worldwide 1 in % 1 in 6,000 Alpha-Thalassemia (AR) HBA1 / HBA2 Caucasian 1 in % 1 in 10,000 99% NM_ / NM_ African American 1 in 30 95% 1 in 580 Asian 1 in 20 95% 1 in 380 Worldwide 1 in 25 95% 1 in 480 Alpha-Thalassemia Mental Retardation ATRX Worldwide 1 in 20,000 58% 1 in 45,000 98% Syndrome (XL) NM_ Alport Syndrome (COL4A3-Related) (AR) COL4A3 African 1 in % 1 in 2,200 99% NM_ Ashkenazi Jewish 1 in % 1 in 22,600 East Asian 1 in % 1 in 1,700 Finnish 1 in % 1 in 5,300 Caucasian 1 in % 1 in 1,800 Latino 1 in % 1 in 1,600 South Asian 1 in % 1 in 3,500 Worldwide 1 in % 1 in 2,100 Alport Syndrome (COL4A4-Related) (AR) COL4A4 African 1 in % 1 in 1,500 98% NM_ Ashkenazi Jewish 1 in % 1 in 82,000 East Asian 1 in % 1 in 510 Finnish 1 in % 1 in 142,000 Caucasian 1 in % 1 in 1,800 Latino 1 in % 1 in 5,800 South Asian 1 in % 1 in 5,700 Worldwide 1 in % 1 in 1,800 Alport Syndrome (COL4A5-Related) (XL) COL4A5 Worldwide 1 in 30,000 80% 1 in 16,400 94% NM_ Alstrom Syndrome (AR) ALMS1 African 1 in % 1 in 2,300 99% NM_ East Asian 1 in % 1 in 3,100 Finnish 1 in % 1 in 62,500 Caucasian 1 in % 1 in 4,500 Latino 1 in % 1 in 35,100 South Asian 1 in % 1 in 3,400 Worldwide 1 in % 1 in 5,100

3 Andermann Syndrome (AR) SLC12A6 Ashkenazi Jewish 1 in % 1 in 164,000 99% NM_ East Asian 1 in % 1 in 287,000 Finnish 1 in % 1 in 279,000 Caucasian 1 in % 1 in 151,000 Latino 1 in % 1 in 76,300 South Asian 1 in % 1 in 256,000 Worldwide 1 in % 1 in 161,000 French-Canadian - 1 in 23 99% 1 in 2,200 Saguenay Lac-St. Jean Argininosuccinic Aciduria (AR) ASL African 1 in % 1 in 1,300 99% NM_ Ashkenazi Jewish 1 in % 1 in 56,000 East Asian 1 in % 1 in 4,000 Finnish 1 in 91 99% 1 in 9,000 Caucasian 1 in % 1 in 1,200 Latino 1 in % 1 in 1,500 South Asian 1 in % 1 in 2,900 Worldwide 1 in % 1 in 1,300 Aromatase Deficiency (AR) CYP19A1 African 1 in % 1 in 4,200 89% NM_ Ashkenazi Jewish 1 in % 1 in 5,800 East Asian 1 in % 1 in 1,200 Finnish 1 in % 1 in 7,400 Caucasian 1 in % 1 in 5,400 Latino 1 in % 1 in 9,200 South Asian 1 in % 1 in 4,200 Worldwide 1 in % 1 in 3,900 Arthrogryposis, Mental Retardation, SLC35A3 African 1 in % 1 in 400,000 99% and Seizures (AR) Ashkenazi Jewish 1 in % 1 in 36,600 NM_ Finnish 1 in % 1 in 278,000 Caucasian 1 in % 1 in 454,000 Latino 1 in % 1 in 336,000 South Asian 1 in % 1 in 399,000 Worldwide 1 in % 1 in 240,000 Asparagine Synthetase Deficiency (AR) ASNS African 1 in % 1 in 84,400 99% NM_ East Asian 1 in % 1 in 178,000 Finnish 1 in % 1 in 3,700 Caucasian 1 in % 1 in 23,900 South Asian 1 in % 1 in 307,000 Worldwide 1 in % 1 in 20,900 Sephardic Jewish - Iranian 1 in 80 99% 1 in 8,100 Aspartylglycosaminuria (AR) AGA African 1 in % 1 in 165,000 99% NM_ East Asian 1 in % 1 in 172,000 Finnish 1 in 60 98% 1 in 3,800 Caucasian 1 in % 1 in 13,000 Latino 1 in % 1 in 15,300 South Asian 1 in % 1 in 220,000 Worldwide 1 in % 1 in 12,800 Ataxia with Isolated Vitamin E Deficiency (AR) TTPA African 1 in % 1 in 31,800 99% NM_ Ashkenazi Jewish 1 in % 1 in 51,200 Finnish 1 in % 1 in 310,000 Caucasian 1 in % 1 in 60,600 Latino 1 in % 1 in 129,000 South Asian 1 in % 1 in 240,000 Worldwide 1 in % 1 in 19,500

4 Ataxia Telangiectasia (AR) ATM African 1 in % 1 in 1,400 95% NM_ Ashkenazi Jewish 1 in % 1 in 3,900 East Asian 1 in % 1 in 540 Finnish 1 in % 1 in 1,300 Caucasian 1 in % 1 in 1,300 Latino 1 in % 1 in 2,700 South Asian 1 in % 1 in 900 Worldwide 1 in % 1 in 1,200 Autosomal Recessive Spastic Ataxia SACS African 1 in % 1 in 20,000 99% of Charlevoix-Saguenay (AR) Ashkenazi Jewish 1 in % 1 in 2,400 NM_ East Asian 1 in % 1 in 2,100 Finnish 1 in % 1 in 34,000 Caucasian 1 in % 1 in 2,100 Latino 1 in % 1 in 2,600 South Asian 1 in % 1 in 11,000 Worldwide 1 in % 1 in 2,900 French Canadian - 1 in 21 99% 1 in 2,000 Charlevoix-Saguenay Bardet-Biedl Syndrome (BBS1-Related) (AR) BBS1 African 1 in % 1 in 3,900 99% NM_ East Asian 1 in % 1 in 2,200 Finnish 1 in % 1 in 27,100 Caucasian 1 in % 1 in 5,400 Latino 1 in % 1 in 41,600 South Asian 1 in % 1 in 8,400 Worldwide 1 in % 1 in 6,200 Faroese 1 in 30 99% 1 in 2,900 Bardet-Biedl Syndrome (BBS2-Related) (AR) BBS2 African 1 in % 1 in 6,900 99% NM_ Ashkenazi Jewish 1 in % 1 in 1,500 East Asian 1 in % 1 in 5,400 Finnish 1 in % 1 in 44,100 Caucasian 1 in % 1 in 1,200 Latino 1 in % 1 in 2,800 South Asian 1 in % 1 in 13,100 Worldwide 1 in % 1 in 2,000 Hutterite 1 in 22 99% 1 in 2,100 Bardet-Biedl Syndrome (BBS10-Related) (AR) BBS10 African 1 in % 1 in 9,600 99% NM_ Ashkenazi Jewish 1 in % 1 in 29,700 East Asian 1 in % 1 in 2,100 Caucasian 1 in % 1 in 2,700 Latino 1 in % 1 in 5,400 South Asian 1 in % 1 in 1,400 Worldwide 1 in % 1 in 3,000 Bardet-Biedl Syndrome (BBS12-Related) (AR) BBS12 African 1 in % 1 in 7,100 99% NM_ East Asian 1 in % 1 in 287,000 Caucasian 1 in % 1 in 9,900 Latino 1 in % 1 in 186,000 South Asian 1 in % 1 in 170,000 Worldwide 1 in % 1 in 17,200 Bare Lymphocyte Syndrome, Type II (AR) CIITA African 1 in % 1 in 336,000 99% NM_ East Asian 1 in % 1 in 129,000 Caucasian 1 in % 1 in 34,800 Latino 1 in % 1 in 240,000 South Asian 1 in % 1 in 220,000 Worldwide 1 in % 1 in 64,700

5 Bartter Syndrome, Type 4A (AR) BSND African 1 in % 1 in 5,400 99% NM_ Ashkenazi Jewish 1 in % 1 in 164,000 East Asian 1 in % 1 in 68,600 Caucasian 1 in % 1 in 91,500 Latino 1 in % 1 in 286,000 South Asian 1 in % 1 in 73,200 Worldwide 1 in % 1 in 46,300 Bernard-Soulier Syndrome, Type A1 (AR) GP1BA African 1 in % 1 in 203,000 99% NM_ East Asian 1 in % 1 in 172,000 Finnish 1 in % 1 in 36,700 Caucasian 1 in % 1 in 42,200 Latino 1 in % 1 in 420,000 Worldwide 1 in % 1 in 66,200 Bernard-Soulier Syndrome, Type C (AR) GP9 African 1 in % 1 in % NM_ Finnish 1 in % 1 in 710 Caucasian 1 in % 1 in 3,300 Latino 1 in % 1 in 16,300 South Asian 1 in % 1 in 84,700 Worldwide 1 in % 1 in 1,100 Beta-Globin Related Hemoglobinopathies: HBB African 1 in 97 92% 1 in 1,200 99% Beta-Thalassemia (AR) Ashkenazi Jewish 1 in 28 99% 1 in 2,700 NM_ East Asian 1 in 87 93% 1 in 1,200 Finnish 1 in % 1 in 3,700 Caucasian 1 in % 1 in 2,000 Latino 1 in % 1 in 3,900 South Asian 1 in 25 98% 1 in 1,000 Worldwide 1 in 81 95% 1 in 1,800 Mediterranean 1 in 28 99% 1 in 2,700 Beta-Globin Related Hemoglobinopathies: HBB African 1 in 38 99% 1 in 3,700 99% HbC Variant (AR) Caucasian 1 in % 1 in 2,107,000 NM_ Latino 1 in % 1 in 21,500 Variant Tested: c.19g>a, p.e7k Worldwide 1 in % 1 in 41,700 Beta-Globin Related Hemoglobinopathies: HBB African 1 in 11 99% 1 in 1,000 99% HbS Variant (Sickle Cell Disease) (AR) Caucasian 1 in % 1 in 790,000 NM_ Latino 1 in % 1 in 23,100 South Asian 1 in % 1 in 80,900 Variant Tested: c.20a>t, p.e7v Worldwide 1 in % 1 in 11,400 3-Beta-Hydroxysteroid Deficiency (AR) HSD3B2 African 1 in % 1 in 7,000 99% NM_ Ashkenazi Jewish 1 in % 1 in 164,000 East Asian 1 in % 1 in 181,000 Caucasian 1 in % 1 in 3,300 Latino 1 in % 1 in 5,500 South Asian 1 in % 1 in 7,200 Worldwide 1 in % 1 in 4,900 Beta-Ketothiolase Deficiency (AR) ACAT1 African 1 in % 1 in 120,000 99% NM_ East Asian 1 in % 1 in 590 Caucasian 1 in % 1 in 3,500 Latino 1 in % 1 in 3,400 South Asian 1 in % 1 in 2,500 Worldwide 1 in % 1 in 3,100

6 Bilateral Frontoparietal Polymicrogyria (AR) GPR56 African 1 in % 1 in 91,600 99% NM_ (ADGRG1) East Asian 1 in % 1 in 143,000 Finnish 1 in % 1 in 137,000 Caucasian 1 in % 1 in 203,000 Latino 1 in % 1 in 15,300 South Asian 1 in % 1 in 64,000 Worldwide 1 in % 1 in 61,500 Biotinidase Deficiency (AR) BTD African 1 in 52 93% 1 in % NM_ Ashkenazi Jewish 1 in 15 99% 1 in 1,400 East Asian 1 in % 1 in 3,800 Finnish 1 in 9 99% 1 in 810 Caucasian 1 in 12 98% 1 in 500 Latino 1 in 24 97% 1 in 740 South Asian 1 in 7 98% 1 in 370 Worldwide 1 in 13 98% 1 in 550 Bloom Syndrome (AR) BLM African 1 in % 1 in 53,100 99% NM_ Ashkenazi Jewish 1 in % 1 in 11,700 East Asian 1 in % 1 in 33,600 Finnish 1 in % 1 in 71,100 Caucasian 1 in % 1 in 7,400 Latino 1 in % 1 in 49,400 South Asian 1 in % 1 in 12,500 Worldwide 1 in % 1 in 11,800 Canavan Disease (AR) ASPA African 1 in % 1 in 37,000 98% NM_ Ashkenazi Jewish 1 in 50 98% 1 in 2,400 Finnish 1 in % 1 in 12,000 Caucasian 1 in % 1 in 4,000 Latino 1 in % 1 in 7,100 South Asian 1 in % 1 in 5,000 Worldwide 1 in % 1 in 5,200 Carbamoylphosphate Synthetase I CPS1 African 1 in % 1 in % Deficiency (AR) Ashkenazi Jewish 1 in % 1 in 82,000 NM_ East Asian 1 in % 1 in 610 Finnish 1 in % 1 in 3,900 Caucasian 1 in % 1 in 990 Latino 1 in % 1 in 1,800 South Asian 1 in % 1 in 1,900 Worldwide 1 in % 1 in 1,200 Carnitine Palmitoyltransferase IA CPT1A African 1 in % 1 in 255,000 99% Deficiency (AR) Ashkenazi Jewish 1 in % 1 in 49,000 NM_ East Asian 1 in % 1 in 143,000 Finnish 1 in % 1 in 7,900 Caucasian 1 in % 1 in 23,800 Latino 1 in % 1 in 5,500 South Asian 1 in % 1 in 7,500 Worldwide 1 in % 1 in 7,200 Hutterite 1 in 16 99% 1 in 1,500 Carnitine Palmitoyltransferase II CPT2 African 1 in % 1 in 1,300 99% Deficiency (AR) Ashkenazi Jewish 1 in 41 99% 1 in 4,000 NM_ East Asian 1 in % 1 in 930 Finnish 1 in % 1 in 24,700 Caucasian 1 in % 1 in 670 Latino 1 in % 1 in 3,700 South Asian 1 in % 1 in 11,900 Worldwide 1 in % 1 in 1,100

7 Carpenter Syndrome (AR) RAB23 African 1 in % 1 in 19,700 98% NM_ Finnish 1 in % 1 in 215,000 Caucasian 1 in % 1 in 21,100 Worldwide 1 in % 1 in 28,100 Cartilage-Hair Hypoplasia (AR) RMRP African 1 in % 1 in % NR_ Ashkenazi Jewish 1 in 68 99% 1 in 6,700 East Asian 1 in % 1 in 440 Finnish 1 in 49 99% 1 in 4,800 Caucasian 1 in % 1 in 960 Latino 1 in % 1 in 2,500 South Asian 1 in % 1 in 1,200 Worldwide 1 in % 1 in 950 Cerebral Creatine Deficiency Syndrome 1 (XL) SLC6A8 Worldwide < 1 in 50,000 76% 1 in 210,000 96% NM_ Exception: Exons 3, 4 Cerebral Creatine Deficiency Syndrome 2 (AR) GAMT African 1 in % 1 in 27,200 98% NM_ Ashkenazi Jewish 1 in % 1 in 70,200 East Asian 1 in % 1 in 57,500 Caucasian 1 in % 1 in 6,500 Latino 1 in % 1 in 15,800 South Asian 1 in % 1 in 130,000 Worldwide 1 in % 1 in 11,400 Portuguese 1 in % 1 in 6,200 Cerebrotendinous Xanthomatosis (AR) CYP27A1 African 1 in % 1 in 6,100 99% NM_ Ashkenazi Jewish 1 in % 1 in 33,000 East Asian 1 in % 1 in 750 Finnish 1 in % 1 in 111,000 Caucasian 1 in % 1 in 3,900 Latino 1 in % 1 in 3,800 South Asian 1 in % 1 in 960 Worldwide 1 in % 1 in 2,600 Sephardic Jewish - Moroccan 1 in 76 99% 1 in 2,500 Charcot-Marie-Tooth Disease, Type 4D (AR) NDRG1 East Asian 1 in % 1 in 225,000 99% NM_ Caucasian 1 in % 1 in 730,000 South Asian 1 in % 1 in 479,000 Worldwide 1 in % 1 in 693,000 Roma 1 in 22 99% 1 in 2,100 Charcot-Marie-Tooth Disease, Type 5 / PRPS1 Worldwide < 1 in 50,000 56% 1 in 115,000 99% Arts Syndrome (XL) NM_ Charcot-Marie-Tooth Disease, X-Linked (XL) GJB1 Worldwide 1 in % 1 in 6,800 99% NM_ Choreoacanthocytosis (AR) VPS13A African 1 in % 1 in 3,100 98% NM_ Ashkenazi Jewish 1 in % 1 in 31,300 East Asian 1 in % 1 in 4,700 Finnish 1 in % 1 in 30,700 Caucasian 1 in % 1 in 13,100 Latino 1 in % 1 in 2,500 South Asian 1 in % 1 in 9,900 Worldwide 1 in % 1 in 6,700 Choroideremia (XL) CHM Worldwide 1 in 10,000 92% 1 in 125,000 99% NM_

8 Chronic Granulomatous Disease CYBA African 1 in % 1 in 3,600 96% (CYBA-Related) (AR) Finnish 1 in % 1 in 15,900 NM_ Caucasian 1 in % 1 in 5,000 Latino 1 in % 1 in 48,300 South Asian 1 in % 1 in 4,800 Worldwide 1 in % 1 in 3,700 Sephardic Jewish - Moroccan 1 in 13 83% 1 in 72 Chronic Granulomatous Disease CYBB Worldwide < 1 in 50,000 83% 1 in 290,000 98% (CYBB-Related) (XL) NM_ Citrin Deficiency (AR) SLC25A13 African 1 in % 1 in 1,700 99% NM_ Ashkenazi Jewish 1 in % 1 in 27,300 East Asian 1 in 48 98% 1 in 2,300 Caucasian 1 in % 1 in 11,700 Latino 1 in % 1 in 14,500 South Asian 1 in % 1 in 3,600 Worldwide 1 in % 1 in 4,700 Citrullinemia, Type I (AR) ASS1 African 1 in % 1 in 2,600 99% NM_ Ashkenazi Jewish 1 in % 1 in 167,000 East Asian 1 in % 1 in 80,800 Finnish 1 in % 1 in 298,000 Caucasian 1 in % 1 in 2,500 Latino 1 in % 1 in 6,600 South Asian 1 in % 1 in 1,300 Worldwide 1 in % 1 in 2,700 Cohen Syndrome (AR) VPS13B African 1 in % 1 in 4,500 98% NM_ Ashkenazi Jewish 1 in % 1 in 3,700 East Asian 1 in % 1 in 12,700 Finnish 1 in % 1 in 6,000 Caucasian 1 in % 1 in 6,400 Latino 1 in % 1 in 21,500 South Asian 1 in % 1 in 15,600 Worldwide 1 in % 1 in 7,000 Combined Malonic and Methylmalonic ACSF3 African 1 in % 1 in 12,500 99% Aciduria (AR) Ashkenazi Jewish 1 in 59 99% 1 in 5,800 NM_ East Asian 1 in % 1 in 23,400 Finnish 1 in % 1 in 34,500 Caucasian 1 in 71 97% 1 in 2,400 Latino 1 in % 1 in 19,300 South Asian 1 in % 1 in 340 Worldwide 1 in 99 94% 1 in 1,700 Combined Oxidative Phosphorylation GFM1 African 1 in % 1 in 51,400 99% Deficiency 1 (AR) East Asian 1 in % 1 in 8,100 NM_ Finnish 1 in % 1 in 84,000 Caucasian 1 in % 1 in 13,500 Latino 1 in % 1 in 132,000 South Asian 1 in % 1 in 76,800 Worldwide 1 in % 1 in 20,200 Combined Oxidative Phosphorylation TSFM African 1 in % 1 in 68,000 99% Deficiency 3 (AR) Finnish 1 in 35 99% 1 in 3,400 NM_ Caucasian 1 in % 1 in 27,000 Latino 1 in % 1 in 180,000 Worldwide 1 in % 1 in 21,200

9 Combined Pituitary Hormone PROP1 Finnish 1 in % 1 in 111,000 99% Deficiency 2 (AR) Caucasian 1 in % 1 in 2,800 NM_ Latino 1 in % 1 in 7,400 Worldwide 1 in % 1 in 5,300 Combined Pituitary Hormone LHX3 East Asian 1 in % 1 in 121,000 99% Deficiency 3 (AR) Caucasian 1 in % 1 in 140,000 NM_ Worldwide 1 in % 1 in 197,000 Combined SAP Deficiency (AR) PSAP African 1 in % 1 in 194,000 99% NM_ Caucasian 1 in % 1 in 44,100 Latino 1 in % 1 in 88,300 Worldwide 1 in % 1 in 77,800 Congenital Adrenal Hyperplasia due to CYP17A1 African 1 in % 1 in 5,200 99% 17-Alpha-Hydroxylase Deficiency (AR) East Asian 1 in % 1 in 840 NM_ Finnish 1 in % 1 in 3,700 Caucasian 1 in % 1 in 1,800 Latino 1 in % 1 in 8,100 South Asian 1 in % 1 in 6,000 Worldwide 1 in % 1 in 2,400 Classic Congenital Adrenal Hyperplasia CYP21A2 Ashkenazi Jewish 1 in 40 95% 1 in % due to 21-Hydroxylase Deficiency (AR) Caucasian 1 in 67 95% 1 in 1,300 NM_ Worldwide 1 in 60 95% 1 in 1,200 Non-Classic Congenital Adrenal Hyperplasia CYP21A2 Ashkenazi Jewish 1 in 7 95% 1 in % due to 21-Hydroxylase Deficiency (AR) Caucasian 1 in 11 95% 1 in 200 NM_ Worldwide 1 in 16 95% 1 in 300 Congenital Amegakaryocytic MPL African 1 in % 1 in 5,400 99% Thrombocytopenia (AR) Ashkenazi Jewish 1 in 60 99% 1 in 5,900 NM_ East Asian 1 in % 1 in 68,000 Finnish 1 in % 1 in 180,000 Caucasian 1 in % 1 in 3,100 Latino 1 in % 1 in 4,000 South Asian 1 in % 1 in 61,600 Worldwide 1 in % 1 in 4,700 Congenital Disorder of Glycosylation, PMM2 African 1 in % 1 in 24,400 99% Type Ia (AR) Ashkenazi Jewish 1 in 66 99% 1 in 6,500 NM_ East Asian 1 in % 1 in 550 Finnish 1 in 58 99% 1 in 5,700 Caucasian 1 in 58 89% 1 in 540 Latino 1 in % 1 in 1,200 South Asian 1 in % 1 in 2,000 Worldwide 1 in 80 91% 1 in 840 Congenital Disorder of Glycosylation, MPI African 1 in % 1 in 2,000 99% Type Ib (AR) East Asian 1 in % 1 in 2,100 NM_ Finnish 1 in % 1 in 6,200 Caucasian 1 in % 1 in 5,600 Latino 1 in % 1 in 15,100 South Asian 1 in % 1 in 7,500 Worldwide 1 in % 1 in 4,900

10 Congenital Disorder of Glycosylation, ALG6 African 1 in % 1 in 3,700 99% Type Ic (AR) Ashkenazi Jewish 1 in % 1 in 5,000 NM_ East Asian 1 in % 1 in 2,300 Finnish 1 in % 1 in 198,000 Caucasian 1 in % 1 in 4,100 Latino 1 in % 1 in 5,600 South Asian 1 in % 1 in 1,900 Worldwide 1 in % 1 in 3,500 Congenital Insensitivity to Pain with NTRK1 African 1 in % 1 in 4,100 99% Anhidrosis (AR) East Asian 1 in % 1 in 1,100 NM_ Finnish 1 in % 1 in 2,000 Caucasian 1 in % 1 in 5,700 Latino 1 in % 1 in 15,700 South Asian 1 in % 1 in 14,900 Worldwide 1 in % 1 in 3,600 Sephardic Jewish - Moroccan N/A 99% N/A Congenital Myasthenic Syndrome CHRNE African 1 in % 1 in 29,900 99% (CHRNE-Related) (AR) Ashkenazi Jewish 1 in % 1 in 14,800 NM_ East Asian 1 in % 1 in 29,800 Finnish 1 in % 1 in 9,300 Caucasian 1 in % 1 in 4,100 Latino 1 in % 1 in 4,900 South Asian 1 in % 1 in 2,800 Worldwide 1 in % 1 in 4,680 Southeastern European Roma 1 in 25 99% 1 in 2,400 Congenital Myasthenic Syndrome RAPSN African 1 in % 1 in 5,700 99% (RAPSN-Related) (AR) Ashkenazi Jewish 1 in % 1 in 25,200 NM_ East Asian 1 in % 1 in 47,000 Finnish 1 in % 1 in 98,800 Caucasian 1 in % 1 in 2,900 Latino 1 in % 1 in 3,200 South Asian 1 in % 1 in 12,100 Worldwide 1 in % 1 in 4,400 Sephardic Jewish - N/A 99% N/A Iraqi and Iranian Congenital Neutropenia (HAX1-Related) (AR) HAX1 African 1 in % 1 in 79,900 99% NM_ Ashkenazi Jewish 1 in % 1 in 82,400 East Asian 1 in % 1 in 126,000 Caucasian 1 in % 1 in 82,300 Latino 1 in % 1 in 280,000 South Asian 1 in % 1 in 513,000 Worldwide 1 in % 1 in 107,000 Congenital Neutropenia (VPS45-Related) (AR) VPS45 African 1 in % 1 in 112,000 99% NM_ East Asian 1 in % 1 in 110,000 Finnish 1 in % 1 in 5,500 Caucasian 1 in % 1 in 163,000 Latino 1 in % 1 in 335,000 South Asian 1 in % 1 in 170,000 Worldwide 1 in % 1 in 43,200

11 Corneal Dystrophy and Perceptive SLC4A11 African 1 in % 1 in 1,100 99% Deafness (AR) East Asian 1 in % 1 in 1,800 NM_ Finnish 1 in % 1 in 389,000 Caucasian 1 in % 1 in 4,600 Latino 1 in % 1 in 1,400 South Asian 1 in % 1 in 2,500 Worldwide 1 in % 1 in 2,200 Corticosterone Methyloxidase Deficiency (AR) CYP11B2 African 1 in % 1 in % NM_ East Asian 1 in % 1 in 1,700 Finnish 1 in % 1 in 1,400 Caucasian 1 in % 1 in 1,500 Latino 1 in % 1 in 1,700 South Asian 1 in % 1 in 3,200 Worldwide 1 in % 1 in 1,500 Exception: Exons 3-7 Sephardic Jewish - Iranian 1 in 30 95% 1 in 580 Cystic Fibrosis (AR) CFTR African 1 in 58 91% 1 in % NM_ Ashkenazi Jewish 1 in 24 98% 1 in 1,200 East Asian 1 in % 1 in 1,400 Finnish 1 in 75 93% 1 in 1,100 Caucasian 1 in 23 95% 1 in 440 Latino 1 in 40 96% 1 in 1,000 South Asian 1 in 73 91% 1 in 800 Exception: Exon 10 Worldwide 1 in 33 94% 1 in 500 Cystinosis (AR) CTNS African 1 in % 1 in 2,900 99% NM_ East Asian 1 in % 1 in 7,100 Caucasian 1 in % 1 in 7,700 Latino 1 in % 1 in 15,400 South Asian 1 in % 1 in 4,900 Worldwide 1 in % 1 in 8,200 French Canadian - 1 in 39 90% 1 in 380 Saguenay-Lac St. Jean Sephardic Jewish - Moroccan 1 in % 1 in 1,200 D-Bifunctional Protein Deficiency (AR) HSD17B4 African 1 in % 1 in 2,200 92% NM_ East Asian 1 in % 1 in 2,700 Caucasian 1 in % 1 in 5,000 Latino 1 in % 1 in 5,500 South Asian 1 in % 1 in 8,200 Worldwide 1 in % 1 in 4,900 Deafness, Autosomal Recessive 77 (AR) LOXHD1 African 1 in % 1 in 2,000 99% NM_ Ashkenazi Jewish 1 in % 1 in 12,500 East Asian 1 in % 1 in 2,800 Finnish 1 in % 1 in 50,700 Caucasian 1 in % 1 in 6,700 Latino 1 in % 1 in 9,100 South Asian 1 in % 1 in 35,200 Worldwide 1 in % 1 in 4,000 Duchenne Muscular Dystrophy/ DMD Worldwide 1 in % 1 in 10,000 99% Becker Muscular Dystrophy (XL) NM_

12 Dyskeratosis Congenita (RTEL1-Related) (AR) RTEL1 African 1 in % 1 in 75,500 99% NM_ Ashkenazi Jewish 1 in % 1 in 11,000 East Asian 1 in % 1 in 3,900 Finnish 1 in % 1 in 112,000 Caucasian 1 in % 1 in 9,800 Latino 1 in % 1 in 138,000 South Asian 1 in % 1 in 72,900 Worldwide 1 in % 1 in 12,200 Dystrophic Epidermolysis Bullosa (AR) COL7A1 African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 3,900 East Asian 1 in % 1 in 1,400 Finnish 1 in 33 96% 1 in 780 Caucasian 1 in % 1 in 900 Latino 1 in % 1 in 930 South Asian 1 in 95 90% 1 in 980 Worldwide 1 in 92 90% 1 in 870 Ehlers-Danlos Syndrome, Type VIIC (AR) ADAMTS2 Ashkenazi Jewish 1 in % 1 in 16,300 99% NM_ East Asian 1 in % 1 in 63,000 Caucasian 1 in % 1 in 243,000 Latino 1 in % 1 in 419,000 South Asian 1 in % 1 in 380,000 Exception: Exon 1 Worldwide 1 in % 1 in 142,000 Ellis-van Creveld Syndrome (EVC-Related) (AR) EVC African 1 in % 1 in 18,500 97% NM_ East Asian 1 in % 1 in 15,200 Finnish 1 in % 1 in 30,000 Caucasian 1 in % 1 in 4,200 Latino 1 in % 1 in 39,900 South Asian 1 in % 1 in 9,500 Worldwide 1 in % 1 in 7,300 Exception: Exon 1 Lancaster County Amish 1 in 12 97% 1 in 370 Emery-Dreifuss Myopathy 1 (XL) EMD Worldwide < 1 in 50,000 94% 1 in 833,000 98% NM_ Enhanced S-Cone Syndrome (AR) NR2E3 African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in 81 97% 1 in 3,100 East Asian 1 in % 1 in 550 Caucasian 1 in % 1 in 1,500 Latino 1 in % 1 in 12,000 South Asian 1 in % 1 in 2,100 Worldwide 1 in % 1 in 1,600 Ethylmalonic Encephalopathy (AR) ETHE1 African 1 in % 1 in 94,800 98% NM_ Caucasian 1 in % 1 in 3,400 Latino 1 in % 1 in 12,500 South Asian 1 in % 1 in 192,000 Worldwide 1 in % 1 in 6,600 Fabry Disease (XL) GLA Worldwide 1 in % 1 in % NM_ Factor IX Deficiency (XL) F9 Worldwide 1 in % 1 in % NM_

13 Factor XI Deficiency (AR) F11 African 1 in % 1 in 1,800 99% NM_ Ashkenazi Jewish 1 in 12 99% 1 in 730 East Asian 1 in 94 79% 1 in 440 Finnish 1 in % 1 in 9,100 Caucasian 1 in % 1 in 1,600 Latino 1 in % 1 in 1,200 South Asian 1 in % 1 in 1,200 Worldwide 1 in % 1 in 1,200 Familial Dysautonomia (AR) IKBKAP African 1 in % 1 in 40,800 99% NM_ Ashkenazi Jewish 1 in 35 99% 1 in 3,400 East Asian 1 in % 1 in 78,300 Finnish 1 in % 1 in 70,600 Caucasian 1 in % 1 in 50,500 Latino 1 in % 1 in 80,000 South Asian 1 in % 1 in 85,400 Worldwide 1 in % 1 in 34,400 Familial Hypercholesterolemia (AR) LDLR African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 4,000 East Asian 1 in 66 75% 1 in 260 Finnish 1 in % 1 in 790 Caucasian 1 in % 1 in 280 Latino 1 in % 1 in 370 South Asian 1 in % 1 in 270 Worldwide 1 in % 1 in 310 French Canadian 1 in % 1 in % South African Afrikaner 1 in 70 94% 1 in 1,200 Familial Hypercholesterolemia, LDLRAP1 African 1 in % 1 in 144,000 98% Autosomal Recessive (AR) Caucasian 1 in % 1 in 136,000 NM_ Latino 1 in % 1 in 140,000 South Asian 1 in % 1 in 192,000 Worldwide 1 in % 1 in 171,000 Sardinian 1 in % 1 in 7,100 Familial Hyperinsulinism (ABCC8-Related) ABCC8 African 1 in % 1 in % (AR) Ashkenazi Jewish 1 in 62 88% 1 in 510 NM_ East Asian 1 in % 1 in 240 Finnish 1 in % 1 in 2,600 Caucasian 1 in % 1 in 420 Latino 1 in % 1 in 1,400 South Asian 1 in % 1 in 840 Worldwide 1 in % 1 in 460 Familial Hyperinsulinism (KCNJ11-Related) KCNJ11 African 1 in % 1 in 290,000 99% (AR) Caucasian 1 in % 1 in 3,500 NM_ Latino 1 in % 1 in 1,700 South Asian 1 in % 1 in 5,000 Worldwide 1 in % 1 in 2,600

14 Familial Mediterranean Fever (AR) MEFV African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in 8 99% 1 in 720 East Asian 1 in % 1 in 3,400 Finnish 1 in 29 99% 1 in 2,800 Caucasian 1 in 40 97% 1 in 1,200 Latino 1 in 74 95% 1 in 1,500 South Asian 1 in 56 95% 1 in 1,000 Worldwide 1 in 40 97% 1 in 1,200 Sepharic Jewish 1 in 14 99% 1 in 1,300 Armenian 1 in 5 99% 1 in 400 Turkish 1 in 5 75% 1 in 17 Fanconi Anemia, Group A (AR) FANCA African 1 in % 1 in 1,100 95% NM_ Ashkenazi Jewish 1 in % 1 in 2,500 East Asian 1 in % 1 in 1,700 Finnish 1 in % 1 in 5,300 Caucasian 1 in % 1 in 1,100 Latino 1 in % 1 in 2,200 South Asian 1 in % 1 in 1,100 Worldwide 1 in % 1 in 1,300 Spanish Roma 1 in 64 95% 1 in 1,300 Sephardic Jewish - 1 in % 1 in 940 Moroccan and Tunisian Fanconi Anemia, Group C (AR) FANCC African 1 in % 1 in 3,700 99% NM_ Ashkenazi Jewish 1 in 82 99% 1 in 8,100 East Asian 1 in % 1 in 34,300 Finnish 1 in % 1 in 119,000 Caucasian 1 in % 1 in 11,600 Latino 1 in % 1 in 112,000 South Asian 1 in % 1 in 102,000 Worldwide 1 in % 1 in 13,700 Fanconi Anemia, Group G (AR) FANCG African 1 in % 1 in 49,300 99% NM_ East Asian 1 in % 1 in 1,200 Finnish 1 in % 1 in 122,000 Caucasian 1 in % 1 in 28,100 Latino 1 in % 1 in 186,000 South Asian 1 in % 1 in 128,000 Worldwide 1 in % 1 in 12,300 Fragile X Syndrome (XL) FMR1 African 1 in % 1 in 26,700 99% NM_ Ashkenazi Jewish 1 in 84 99% 1 in 8,300 East Asian 1 in % 1 in 222,000 Caucasian 1 in % 1 in 18,600 Latino 1 in % 1 in 20,500 South Asian 1 in % 1 in 17,100 Worldwide 1 in % 1 in 18,000 Fumarase Deficiency (AR) FH African 1 in % 1 in 6,100 98% NM_ Ashkenazi Jewish 1 in 99 98% 1 in 4,900 Finnish 1 in % 1 in 9,400 Caucasian 1 in % 1 in 3,700 Latino 1 in % 1 in 40,000 South Asian 1 in % 1 in 5,100 Worldwide 1 in % 1 in 5,300

15 Galactokinase Deficiency (AR) GALK1 African 1 in % 1 in % NM_ East Asian 1 in % 1 in 1,600 Finnish 1 in % 1 in 129,000 Caucasian 1 in % 1 in 2,700 Latino 1 in % 1 in 3,000 South Asian 1 in % 1 in 2,700 Worldwide 1 in % 1 in 2,300 Roma 1 in 47 98% 1 in 2,300 Galactosemia (AR) GALT African 1 in 87 86% 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 4,100 East Asian 1 in % 1 in 350 Finnish 1 in % 1 in 12,600 Caucasian 1 in % 1 in 1,600 Latino 1 in % 1 in 3,000 South Asian 1 in % 1 in 1,800 Worldwide 1 in % 1 in 1,000 Irish Travellers 1 in 11 99% 1 in 1,000 Gaucher Disease (AR) GBA Caucasian 1 in % 1 in 1,300 95% NM_ Ashkenazi Jewish 1 in 15 95% 1 in 280 Worldwide 1 in % 1 in 1,100 Gitelman Syndrome (AR) SLC12A3 African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 6,000 East Asian 1 in 28 88% 1 in 230 Finnish 1 in % 1 in 450 Caucasian 1 in 73 75% 1 in 290 Latino 1 in % 1 in 730 South Asian 1 in % 1 in 460 Worldwide 1 in 82 78% 1 in 370 Glutaric Acidemia, Type I (AR) GCDH African 1 in 93 76% 1 in % NM_ East Asian 1 in % 1 in 3,600 Finnish 1 in % 1 in 3,700 Caucasian 1 in % 1 in 1,900 Latino 1 in % 1 in 3,700 South Asian 1 in % 1 in 390 Worldwide 1 in % 1 in 1,000 Oji-Cree First Nations (N. Manitoba) 1 in 8 99% 1 in 700 Old Order Amish of Pennsylvania 1 in 11 99% 1 in 1,000 Lumbee Native American 1 in 16 99% 1 in 1,500 Glutaric Acidemia, Type IIa (AR) ETFA African 1 in % 1 in 6,300 97% NM_ East Asian 1 in % 1 in 2,100 Caucasian 1 in % 1 in 4,700 Latino 1 in % 1 in 15,000 South Asian 1 in % 1 in 36,600 Worldwide 1 in % 1 in 6,400 Glutaric Acidemia, Type IIc (AR) ETFDH African 1 in % 1 in 1,000 99% NM_ Ashkenazi Jewish 1 in % 1 in 123,000 East Asian 1 in 89 66% 1 in 260 Finnish 1 in % 1 in 5,700 Caucasian 1 in % 1 in 1,700 Latino 1 in % 1 in 1,400 South Asian 1 in % 1 in 1,400 Worldwide 1 in % 1 in 1,200

16 Glycine Encephalopathy (AMT-Related) (AR) AMT East Asian 1 in % 1 in 2,100 99% NM_ Finnish 1 in % 1 in 10,700 Caucasian 1 in % 1 in 2,300 Latino 1 in % 1 in 690 South Asian 1 in % 1 in 90,400 Worldwide 1 in % 1 in 2,300 Glycine Encephalopathy (GLDC-Related) (AR) GLDC African 1 in % 1 in 1,000 95% NM_ East Asian 1 in % 1 in 330 Finnish 1 in % 1 in 740 Caucasian 1 in % 1 in 840 Latino 1 in % 1 in 900 South Asian 1 in % 1 in 1,300 Exception: Exon 1 Worldwide 1 in % 1 in 780 Glycogen Storage Disease, Type Ia (AR) G6PC African 1 in % 1 in 7,000 99% NM_ Ashkenazi Jewish 1 in 75 99% 1 in 7,400 East Asian 1 in % 1 in 410 Finnish 1 in % 1 in 54,800 Caucasian 1 in % 1 in 5,300 Latino 1 in % 1 in 3,100 South Asian 1 in % 1 in 15,100 Worldwide 1 in % 1 in 3,200 Glycogen Storage Disease, Type Ib (AR) SLC37A4 African 1 in % 1 in 141,000 99% NM_ Ashkenazi Jewish 1 in % 1 in 125,000 East Asian 1 in % 1 in 3,900 Finnish 1 in % 1 in 78,700 Caucasian 1 in % 1 in 7,300 Latino 1 in % 1 in 11,700 South Asian 1 in % 1 in 13,000 Worldwide 1 in % 1 in 9,600 Glycogen Storage Disease, Type II (AR) GAA African 1 in 71 82% 1 in % NM_ Ashkenazi Jewish 1 in 76 97% 1 in 3,000 East Asian 1 in 63 78% 1 in 280 Finnish 1 in % 1 in 890 Caucasian 1 in 49 91% 1 in 520 Latino 1 in 95 86% 1 in 690 South Asian 1 in % 1 in 1,500 Worldwide 1 in 71 87% 1 in 530 Glycogen Storage Disease, Type III (AR) AGL African 1 in % 1 in 1,300 99% NM_ East Asian 1 in % 1 in 54,800 Finnish 1 in % 1 in 158,000 Caucasian 1 in % 1 in 5,700 Latino 1 in % 1 in 12,700 South Asian 1 in % 1 in 1,900 Worldwide 1 in % 1 in 3,700 Sephardic Jewish - Moroccan 1 in 34 99% 1 in 3,300 Faroese 1 in 28 99% 1 in 2,700 Glycogen Storage Disease, Type IV / GBE1 African 1 in % 1 in 2,600 98% Adult Polyglucosan Body Disease (AR) Ashkenazi Jewish 1 in 55 98% 1 in 2,700 NM_ East Asian 1 in % 1 in 64,000 Finnish 1 in % 1 in 7,700 Caucasian 1 in % 1 in 2,400 Latino 1 in % 1 in 4,500 South Asian 1 in % 1 in 2,600 Worldwide 1 in % 1 in 3,000

17 Glycogen Storage Disease, Type V (AR) PYGM African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 420 East Asian 1 in % 1 in 1,400 Finnish 1 in % 1 in 3,400 Caucasian 1 in % 1 in 1,200 Latino 1 in % 1 in 1,800 South Asian 1 in % 1 in 2,700 Worldwide 1 in % 1 in 1,300 Sephardic Jewish - Kurdish 1 in 84 98% 1 in 4,200 Glycogen Storage Disease, Type VII (AR) PFKM African 1 in % 1 in 10,600 99% NM_ Ashkenazi Jewish 1 in % 1 in 9,900 East Asian 1 in % 1 in 7,900 Finnish 1 in % 1 in 3,200 Caucasian 1 in % 1 in 4,300 South Asian 1 in % 1 in 308,000 Worldwide 1 in % 1 in 6,300 GRACILE Syndrome and Other BCS1L- BCS1L African 1 in % 1 in 2,100 99% Related Disorders (AR) Ashkenazi Jewish 1 in % 1 in 16,800 NM_ East Asian 1 in % 1 in 82,100 Finnish 1 in 95 93% 1 in 1,400 Caucasian 1 in % 1 in 3,900 Latino 1 in % 1 in 55,100 South Asian 1 in % 1 in 4,800 Worldwide 1 in % 1 in 3,900 Hemochromatosis, Type 2A (AR) HFE2 African 1 in % 1 in 2,400 99% NM_ East Asian 1 in % 1 in 740 Caucasian 1 in % 1 in 7,000 Latino 1 in % 1 in 3,300 South Asian 1 in % 1 in 4,800 Worldwide 1 in % 1 in 4,000 Hemochromatosis, Type 3 (AR) TFR2 African 1 in % 1 in 4,200 99% NM_ East Asian 1 in % 1 in 275,000 Caucasian 1 in % 1 in 11,400 Latino 1 in % 1 in 37,700 South Asian 1 in % 1 in 5,000 Worldwide 1 in % 1 in 7,400 Hereditary Fructose Intolerance (AR) ALDOB African 1 in % 1 in 15,900 98% NM_ Ashkenazi Jewish 1 in % 1 in 7,000 East Asian 1 in % 1 in 35,200 Finnish 1 in % 1 in 5,000 Caucasian 1 in 81 96% 1 in 1,900 Latino 1 in % 1 in 3,900 South Asian 1 in % 1 in 8,700 Worldwide 1 in % 1 in 3,000 Hereditary Spastic Paraparesis 49 (AR) TECPR2 African 1 in % 1 in 187,000 99% NM_ Ashkenazi Jewish 1 in % 1 in 15,000 East Asian 1 in % 1 in 166,000 Finnish 1 in % 1 in 92,800 Caucasian 1 in % 1 in 12,400 Latino 1 in % 1 in 559,000 South Asian 1 in % 1 in 2,600 Worldwide 1 in % 1 in 11,100 Sephardic Jewish - Bukharian 1 in 27 99% 1 in 2,600

18 Hermansky-Pudlak Syndrome, Type 1 (AR) HPS1 African 1 in % 1 in 5,680 99% NM_ East Asian 1 in % 1 in 286,000 Finnish 1 in % 1 in 54,900 Caucasian 1 in % 1 in 3,500 Latino 1 in % 1 in 99,800 South Asian 1 in % 1 in 154,000 Worldwide 1 in % 1 in 6,300 Puerto Rican 1 in 59 99% 1 in 5,800 Hermansky-Pudlak Syndrome, Type 3 (AR) HPS3 African 1 in % 1 in 79,800 99% NM_ Ashkenazi Jewish 1 in % 1 in 26,500 East Asian 1 in % 1 in 21,800 Caucasian 1 in % 1 in 49,000 Latino 1 in % 1 in 67,300 95% South Asian 1 in % 1 in 1,850 Worldwide 1 in % 1 in 11,900 HMG-CoA Lyase Deficiency (AR) HMGCL African 1 in % 1 in 48,100 98% NM_ East Asian 1 in % 1 in 113,000 Finnish 1 in % 1 in 66,500 Caucasian 1 in % 1 in 2,700 Latino 1 in % 1 in 56,100 South Asian 1 in % 1 in 64,100 Worldwide 1 in % 1 in 5,400 Holocarboxylase Synthetase Deficiency (AR) HLCS African 1 in % 1 in 6,800 99% NM_ East Asian 1 in % 1 in 6,900 Finnish 1 in % 1 in 143,000 Caucasian 1 in % 1 in 5,500 Latino 1 in % 1 in 5,200 South Asian 1 in % 1 in 110,000 Worldwide 1 in % 1 in 7,400 Homocystinuria (CBS-Related) (AR) CBS African 1 in % 1 in 3,500 97% NM_ Ashkenazi Jewish 1 in % 1 in 3,500 East Asian 1 in % 1 in 2,200 Finnish 1 in % 1 in 5,600 Caucasian 1 in % 1 in 1,400 Latino 1 in % 1 in 3,100 South Asian 1 in % 1 in 5,000 Worldwide 1 in % 1 in 1,900 Qatari 1 in 21 86% 1 in 140 Homocystinuria due to MTHFR Deficiency (AR) MTHFR Sephardic Jewish - Bukharian 1 in 39 99% 1 in 3,800 99% NM_ Variant tested: p.g158g (Genotyping only) Homocystinuria, cble Type (AR) MTRR African 1 in % 1 in 75,800 99% NM_ Ashkenazi Jewish 1 in % 1 in 166,000 Finnish 1 in % 1 in 152,000 Caucasian 1 in % 1 in 9,600 Latino 1 in % 1 in 12,600 South Asian 1 in % 1 in 256,000 Worldwide 1 in % 1 in 16,100

19 Hydrolethalus Syndrome (AR) HYLS1 African 1 in % 1 in 109,000 99% NM_ East Asian 1 in % 1 in 296,000 Finnish 1 in 51 99% 1 in 5,000 Caucasian 1 in % 1 in 52,100 Latino 1 in % 1 in 88,400 South Asian 1 in % 1 in 220,000 Worldwide 1 in % 1 in 31,600 Hyperornithinemia-Hyperammonemia- SLC25A15 East Asian 1 in % 1 in 30,200 99% Homocitrullinuria Syndrome (AR Finnish 1 in % 1 in 322,000 NM_ Caucasian 1 in % 1 in 5,700 Latino 1 in % 1 in 112,000 South Asian 1 in % 1 in 7,500 Worldwide 1 in % 1 in 8,900 Metis - Saskatchewan 1 in 19 99% 1 in 1,800 Hypohidrotic Ectodermal Dysplasia 1 (XL) EDA Worldwide 1 in % 1 in 22,000 97% NM_ Hypophosphatasia (AR) ALPL African 1 in % 1 in 4,400 99% NM_ Ashkenazi Jewish 1 in % 1 in 2,500 East Asian 1 in % 1 in 5,200 Finnish 1 in 28 96% 1 in 660 Caucasian 1 in % 1 in 790 Latino 1 in % 1 in 880 South Asian 1 in % 1 in 2,500 Worldwide 1 in % 1 in 1,000 Mennonite 1 in 25 99% 1 in 2,400 Inclusion Body Myopathy 2 (AR) GNE African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 4,800 East Asian 1 in % 1 in 2,600 Finnish 1 in % 1 in 5,500 Caucasian 1 in % 1 in 2,000 Latino 1 in % 1 in 2,100 South Asian 1 in 36 98% 1 in 1,600 Worldwide 1 in % 1 in 1,500 Sephardic Jewish - Iranian and Syrian 1 in 10 99% 1 in 900 Infantile Cerebral and Cerebellar Atrophy (AR) MED17 African 1 in % 1 in 75,100 99% NM_ Caucasian 1 in % 1 in 129,000 Latino 1 in % 1 in 559,000 South Asian 1 in % 1 in 308,000 Worldwide 1 in % 1 in 130,000 Sephardic Jewish - Bukharian 1 in 20 99% 1 in 1,900 and Kurdish Isovaleric Acidemia (AR) IVD African 1 in % 1 in 2,400 99% NM_ East Asian 1 in % 1 in 4,200 Finnish 1 in % 1 in 10,700 Caucasian 1 in % 1 in 2,000 Latino 1 in % 1 in 5,100 South Asian 1 in % 1 in 3,000 Worldwide 1 in % 1 in 2,800 Joubert Syndrome 2 (AR) TMEM216 African 1 in % 1 in 336,000 99% NM_ Ashkenazi Jewish 1 in % 1 in 13,600 Caucasian 1 in % 1 in 152,000 Latino 1 in % 1 in 203,000 South Asian 1 in % 1 in 353,000 Worldwide 1 in % 1 in 133,000

20 Joubert Syndrome 7 / Meckel Syndrome 5 / RPGRIP1L African 1 in % 1 in 25,600 99% COACH Syndrome (AR) East Asian 1 in % 1 in 1,100 NM_ Finnish 1 in % 1 in 98,800 Caucasian 1 in % 1 in 31,800 Latino 1 in % 1 in 13,200 South Asian 1 in % 1 in 6,800 Exception: Exon 22 Worldwide 1 in % 1 in 9,000 Junctional Epidermolysis Bullosa LAMA3 African 1 in % 1 in 78,100 99% (LAMA3-Related) (AR) East Asian 1 in % 1 in 49,400 NM_ Finnish 1 in % 1 in 1,200 Caucasian 1 in % 1 in 20,900 Latino 1 in % 1 in 142,000 South Asian 1 in % 1 in 80,900 Worldwide 1 in % 1 in 9,300 Junctional Epidermolysis Bullosa LAMB3 African 1 in % 1 in 8,300 99% (LAMB3-Related) (AR) Ashkenazi Jewish 1 in % 1 in 98,300 NM_ East Asian 1 in % 1 in 8,600 Finnish 1 in % 1 in 95,600 Caucasian 1 in % 1 in 1,900 Latino 1 in % 1 in 112,000 South Asian 1 in % 1 in 62,800 Worldwide 1 in % 1 in 3,800 Junctional Epidermolysis Bullosa LAMC2 African 1 in % 1 in 82,200 99% (LAMC2-Related) (AR) East Asian 1 in % 1 in 28,400 NM_ Caucasian 1 in % 1 in 77,100 Latino 1 in % 1 in 420,000 South Asian 1 in % 1 in 171,000 Worldwide 1 in % 1 in 77,600 Krabbe Disease (AR) GALC African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 1,300 East Asian 1 in 40 81% 1 in 200 Finnish 1 in % 1 in 14,500 Caucasian 1 in 67 88% 1 in 570 Latino 1 in % 1 in 900 South Asian 1 in 35 91% 1 in 370 Worldwide 1 in 74 83% 1 in 440 Druze Northern Israel 1 in 6 99% 1 in 500 Muslim Arab (Jerusalem) 1 in 6 99% 1 in 500 Lamellar Ichthyosis, Type 1 (AR) TGM1 African 1 in % 1 in % NM_ Ashkenazi Jewish 1 in % 1 in 61,900 East Asian 1 in % 1 in 6,600 Finnish 1 in % 1 in 2,300 Caucasian 1 in % 1 in 1,100 Latino 1 in % 1 in 4,000 South Asian 1 in 79 15% 1 in 93 Worldwide 1 in % 1 in 540 Norwegian 1 in % 1 in 750 Leber Congenital Amaurosis 10 and Other CEP290 African 1 in % 1 in 1,300 99% CEP290-Related Ciliopathies (AR) Ashkenazi Jewish 1 in % 1 in 3,200 NM_ East Asian 1 in 32 97% 1 in 1,100 Finnish 1 in % 1 in 71,200 Caucasian 1 in 97 96% 1 in 2,700 Latino 1 in % 1 in 2,000 South Asian 1 in % 1 in 22,100 Exception: Exons 13, 32, 40 Worldwide 1 in % 1 in 2,800

21 Leber Congenital Amaurosis 13 (AR) RDH12 African 1 in % 1 in 4,100 99% NM_ East Asian 1 in % 1 in 87,600 Caucasian 1 in % 1 in 5,500 Latino 1 in % 1 in 2,600 South Asian 1 in % 1 in 1,000 Worldwide 1 in % 1 in 2,800 Leber Congenital Amaurosis 2 / RPE65 African 1 in % 1 in 5,400 99% Retinitis Pigmentosa 20 (AR) East Asian 1 in % 1 in 2,100 NM_ Finnish 1 in % 1 in 4,100 Caucasian 1 in % 1 in 2,500 Latino 1 in % 1 in 1,400 South Asian 1 in % 1 in 490 Worldwide 1 in % 1 in 1,700 Sephardic Jewish - 1 in 90 99% 1 in 8,900 North African Leber Congenital Amaurosis 5 (AR) LCA5 Ashkenazi Jewish 1 in % 1 in 23,300 99% NM_ East Asian 1 in % 1 in 4,200 Caucasian 1 in % 1 in 14,200 Latino 1 in % 1 in 4,200 South Asian 1 in % 1 in 3,800 Worldwide 1 in % 1 in 8,800 Leber Congenital Amaurosis 8 / CRB1 African 1 in % 1 in 3,300 99% Retinitis Pigmentosa 12 (AR) Ashkenazi Jewish 1 in % 1 in 4,400 NM_ East Asian 1 in % 1 in 960 Finnish 1 in % 1 in 11,500 Caucasian 1 in % 1 in 990 Latino 1 in % 1 in 2,000 South Asian 1 in % 1 in 1,000 Worldwide 1 in % 1 in 1,300 Leigh Syndrome, French-Canadian LRPPRC African 1 in % 1 in 65,400 99% Type (AR) East Asian 1 in % 1 in 22,100 NM_ Finnish 1 in % 1 in 47,100 Caucasian 1 in % 1 in 32,400 Latino 1 in % 1 in 178,000 South Asian 1 in % 1 in 75,700 Worldwide 1 in % 1 in 13,500 French Canadian - Saguenay- 1 in 23 99% 1 in 2,200 Lac St. Jean Lethal Congenital Contracture Syndrome 1 / GLE1 African 1 in % 1 in 3,300 99% Cell Lethal Arthrogryposis with Anterior East Asian 1 in % 1 in 3,100 Horn Disease (AR) Finnish 1 in 40 97% 1 in 1,500 NM_ Caucasian 1 in % 1 in 4,800 Latino 1 in % 1 in 2,800 South Asian 1 in % 1 in 4,800 Worldwide 1 in % 1 in 3,700 Leukoencephalopathy with Vanishing EIF2B5 African 1 in % 1 in 2,300 99% White Matter (AR) East Asian 1 in % 1 in 8,200 NM_ Caucasian 1 in % 1 in 2,300 Latino 1 in % 1 in 2,000 South Asian 1 in % 1 in 7,600 Worldwide 1 in % 1 in 3,000

22 Limb-Girdle Muscular Dystrophy, Type 2A CAPN3 African 1 in % 1 in % (AR) Ashkenazi Jewish 1 in % 1 in 56,200 NM_ East Asian 1 in % 1 in 470 Finnish 1 in % 1 in 1,600 Caucasian 1 in % 1 in 720 Latino 1 in % 1 in 1,700 South Asian 1 in % 1 in 1,100 Worldwide 1 in % 1 in 770 Amish N/A 99% N/A Limb-Girdle Muscular Dystrophy, Type 2B DYSF African 1 in % 1 in % (AR) Ashkenazi Jewish 1 in % 1 in 440 NM_ East Asian 1 in % 1 in 1,000 Finnish 1 in % 1 in 2,400 Caucasian 1 in % 1 in 870 Latino 1 in % 1 in 700 South Asian 1 in % 1 in 570 Worldwide 1 in % 1 in 680 Sephardic Jewish - Libyan, 1 in 14 96% 1 in 330 Kavkazi and Yemenite Limb-Girdle Muscular Dystrophy, Type 2C SGCG African 1 in % 1 in 5,800 92% (AR) Caucasian 1 in % 1 in 4,900 NM_ Latino 1 in % 1 in 26,300 South Asian 1 in % 1 in 36,900 Worldwide 1 in % 1 in 8,000 Moroccan 1 in % 1 in 1,100 Roma 1 in 96 92% 1 in 1,200 Limb-Girdle Muscular Dystrophy, Type 2D SGCA African 1 in % 1 in 2,600 99% (AR) Ashkenazi Jewish 1 in % 1 in 27,500 NM_ East Asian 1 in % 1 in 8,400 Finnish 1 in % 1 in 25,600 Caucasian 1 in % 1 in 3,500 Latino 1 in % 1 in 7,800 South Asian 1 in % 1 in 5,000 Worldwide 1 in % 1 in 3,000 Limb-Girdle Muscular Dystrophy, Type 2E SGCB African 1 in % 1 in 32,600 98% (AR) East Asian 1 in % 1 in 71,800 NM_ Finnish 1 in % 1 in 105,000 Caucasian 1 in % 1 in 31,400 Latino 1 in % 1 in 168,000 South Asian 1 in % 1 in 18,600 Worldwide 1 in % 1 in 27,800 Limb-Girdle Muscular Dystrophy, Type 2I FKRP African 1 in % 1 in 3,300 99% (AR) Ashkenazi Jewish 1 in % 1 in 1,400 NM_ East Asian 1 in % 1 in 460 Finnish 1 in % 1 in 22,800 Caucasian 1 in % 1 in 1,300 Latino 1 in % 1 in 280 South Asian 1 in % 1 in 4,000 Worldwide 1 in % 1 in 880 Norwegian 1 in % 1 in 11,500

23 Lipoamide Dehydrogenase Deficiency (AR) DLD Ashkenazi Jewish 1 in 60 99% 1 in 5,900 99% NM_ East Asian 1 in % 1 in 225,000 Finnish 1 in % 1 in 70,400 Caucasian 1 in % 1 in 13,600 Latino 1 in % 1 in 3,300 South Asian 1 in % 1 in 118,000 Worldwide 1 in % 1 in 10,800 Lipoid Adrenal Hyperplasia (AR) STAR African 1 in % 1 in 10,800 99% NM_ East Asian 1 in % 1 in 36,300 Finnish 1 in % 1 in 6,300 Caucasian 1 in % 1 in 3,600 Latino 1 in % 1 in 2,400 South Asian 1 in % 1 in 7,400 Worldwide 1 in % 1 in 4,300 Lipoprotein Lipase Deficiency (AR) LPL African 1 in % 1 in 1,300 99% NM_ East Asian 1 in % 1 in 800 Caucasian 1 in % 1 in 2,400 Latino 1 in % 1 in 1,100 South Asian 1 in % 1 in 900 Worldwide 1 in % 1 in 1,600 French Canadian - Saguenay - 1 in 46 99% 1 in 4,500 Lac St. Jean French Canadian - Other 1 in % 1 in 13,800 Long-Chain 3-Hydroxyacyl-CoA HADHA African 1 in % 1 in 2,200 99% Dehydrogenase Deficiency (AR) East Asian 1 in % 1 in 4,600 NM_ Finnish 1 in % 1 in 12,200 Caucasian 1 in % 1 in 5,900 Latino 1 in % 1 in 7,100 South Asian 1 in % 1 in 73,200 Worldwide 1 in % 1 in 4,900 Lysinuric Protein Intolerance (AR) SLC7A7 African 1 in % 1 in 3,200 99% NM_ East Asian 1 in % 1 in 72,300 Finnish 1 in % 1 in 10,500 Caucasian 1 in % 1 in 3,000 Latino 1 in % 1 in 282,000 South Asian 1 in % 1 in 13,900 Worldwide 1 in % 1 in 5,100 Japanese 1 in % 1 in 980 Maple Syrup Urine Disease, Type 1a (AR) BCKDHA African 1 in % 1 in 1,600 98% NM_ Ashkenazi Jewish 1 in % 1 in 16,900 East Asian 1 in % 1 in 4,000 Finnish 1 in % 1 in 138,000 Caucasian 1 in % 1 in 5,100 Latino 1 in % 1 in 12,100 South Asian 1 in % 1 in 53,300 Worldwide 1 in % 1 in 5,700 Mennonite 1 in 10 98% 1 in 450 Portuguese Roma 1 in 71 98% 1 in 3,500